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Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa

BACKGROUND: Genomic mutations in about 200 genes are associated with hereditary retinal diseases. In this study, we screened for the disease-causing gene mutation in a family with X-linked retinal degenerative disease. METHODS: Pedigree data were collected and genomic DNA was isolated from periphera...

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Detalles Bibliográficos
Autores principales:	Guo, Hui, Li, Jisheng, Gao, Fei, Li, Jiangxia, Wu, Xinyi, Liu, Qiji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4517409/ https://www.ncbi.nlm.nih.gov/pubmed/26216097 http://dx.doi.org/10.1186/s12886-015-0081-4

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